Distal Femur Insufficiency Fracture in a Pediatric Patient: An Atypical Presentation of Osteogenesis Imperfecta: A
Kessiena L Aya1, Kelly D Carmichael, Matthew Igbinigie
1Department of Orthopaedic Surgery and Rehabilitation, The University of Texas Medical Branch, Galveston, Texas.
JBJS Case Connector
|October 5, 2019
Abstract
Case:
We present an unusual case of a distal metaphyseal femur insufficiency fracture in an adolescent with a history of multiple low-energy appendicular fractures. A genetic workup was significant for a variant of unknown significance to the Col1A1 gene.
Conclusions:
To our knowledge, this is the first report of this collagen gene variant as a risk factor for multiple fractures. The case illustrates the presentation of this gene's phenotype and suggested medical management.
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